Abstract:
:The role of genetics in Parkinson's disease (PD), previously controversial, is now documented by several studies. A major breakthrough has been the discovery of two single-gene defects in familial PD. A single base pair change at position 209 from G to A (G209A) in the fourth exon of the alpha-synuclein gene has been identified in cases of autosomal dominant familial PD. Mutations in the Parkin gene can induce autosomal recessive juvenile parkinsonism. A polymorphism of R/W366 in the Parkin gene was found to be associated with a protective factor for sporadic PD. We surveyed the polymorphisms of the Parkin gene, including S/N167, R/W366 and V/L380, in 92 cases of sporadic PD and 98 nonaffected individuals in Taiwanese Chinese. The allele frequencies of these polymorphisms are not significantly different between PD and nonaffected controls. We conclude that polymorphisms of the Parkin gene, S/N167, R/W366, V/L380, are not genetic factors for sporadic PD among Chinese in Taiwan.
journal_name
Eur Neuroljournal_title
European neurologyauthors
Hu CJ,Sung SM,Liu HC,Lee CC,Tsai CH,Chang JGdoi
10.1159/000008203keywords:
subject
Has Abstractpub_date
2000-01-01 00:00:00pages
90-3issue
2eissn
0014-3022issn
1421-9913pii
8203journal_volume
44pub_type
杂志文章abstract::Neurodegenerative tauopathies may be inherited as autosomal-dominant disorders with variable clinicopathological phenotypes, and causative mutations in the microtubule-associated protein tau (MAPT) gene are not regularly seen. Herein, we describe a patient with clinically typical and autopsy-proven corticobasal degene...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000334731
更新日期:2012-01-01 00:00:00
abstract::Sixteen children with definite multiple sclerosis (MS; aged 6-17 years, mean 11.4 +/- 2.7; 8 boys, 8 girls) were reviewed. Cerebellar symptoms and signs were frequent at initial presentation. Among laboratory studies, the cerebrospinal fluid (CSF) IgG index or oligoclonal bands were informative in 75%, evoked potentia...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000117213
更新日期:1996-01-01 00:00:00
abstract::Temporal arteritis (TA) is a vasculitis involving mainly cranial branches of the aorta that can lead to ischemic complications such as amaurosis or ischemic stroke. Increment in the platelet count has been described in the acute period of the disease. We studied retrospectively the platelet count in patients with TA, ...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000052088
更新日期:2001-01-01 00:00:00
abstract:BACKGROUND:The association between edentulism and cerebral small vessel disease is controversial. We aimed to assess this relationship in community-dwelling older adults living in rural Ecuador. METHODS:MRI was performed in 311 (81%) of 385 individuals ≥60 years enrolled in the Atahualpa Project. Participants were cla...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000448839
更新日期:2016-01-01 00:00:00
abstract:BACKGROUND:The K variant of butyrylcholinesterase (BCHE-K) exhibits a reduced acetylcholine-hydrolyzing capacity; so the clinical response to rivastigmine may differ in Alzheimer's disease (AD) patients with the BCHE-K gene. OBJECTIVE:To investigate the clinical response to rivastigmine transdermal patch monotherapy o...
journal_title:European neurology
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1159/000366198
更新日期:2015-01-01 00:00:00
abstract:BACKGROUND:A marked proportion of multiple sclerosis (MS) relapses is followed by incomplete recovery. Our aim was to considerably increase the evidence of the clinical use of immunoadsorption (IA) as escalation therapy for patients with MS relapse. METHODS:A retrospective multicenter study was performed in MS patient...
journal_title:European neurology
pub_type: 杂志文章,多中心研究
doi:10.1159/000447059
更新日期:2016-01-01 00:00:00
abstract::The gradual intraneuronal accumulation of an insoluble fibrous material which partly consists of abnormally phosphorylated tau protein (neurofibrillary change) represents an important neuropathological hallmark of Alzheimer's disease. Neurofibrillary tangles and neuropil threads formed from this material develop in on...
journal_title:European neurology
pub_type: 杂志文章,评审
doi:10.1159/000116984
更新日期:1993-01-01 00:00:00
abstract::Diplopia, blurred vision and colour disturbances are well-known side effects associated with anti-epileptic drugs (AEDs). Farnsworth-Munsell 100-hue colour test (F-100) is an accepted and sensitive tool to detect changes in colour perception. To determine the impact of AEDs upon colour vision, we evaluated 37 consecut...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000008051
更新日期:1999-01-01 00:00:00
abstract::We examined 29 patients with chronic progressive ganglionopathy of different etiology. Neurophysiological abnormalities were dominated by a widespread decrease in sensory nerve action potential amplitudes, which involved both upper and lower limb nerves, even in patients with asymmetrical or patchy clinical presentati...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000073055
更新日期:2003-01-01 00:00:00
abstract::Don Quixote de la Mancha, which is considered one of the most important and influential works of Western modern prose, contains many references of interest for almost all of the medical specialties. In this regard, numerous references to neurology can be found in Cervantes' immortal work. In this study, we aimed to re...
journal_title:European neurology
pub_type: 传,历史文章,杂志文章
doi:10.1159/000341338
更新日期:2012-01-01 00:00:00
abstract::The central motor pathways were studied with the technique of percutaneous electrical stimulation of the central nervous system in 40 normal volunteers. There were no significant differences between the right and left sides, or between males and females. A linear correlation between the cortical latency (Lcor) or the ...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000116396
更新日期:1989-01-01 00:00:00
abstract::4 cases with an identical neuromuscular disorder are presented. The disorder was characterized by slowly progressive weakness and wasting of the proximal muscles together with either ocular or bulbar symptoms, fatigability, positive tensilon test, myasthenic response on repetitive nerve stimulations, elevated serum cr...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000115454
更新日期:1982-01-01 00:00:00
abstract::The present paper is a study of a microcystic intraspinal tumour that developed in a 4-year-old child. The histologic examination showed the presence of neuroblastic elements developing next to smooth muscle fibers. The tumour had diffusely invaded the meninges, presenting a marked collagen reaction. Ultrastructurally...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000114682
更新日期:1975-01-01 00:00:00
abstract:OBJECTIVES:To analyze the trajectory to diagnosis and information provided in a series of cluster headache (CH) patients from five headache clinics. METHODS:CH patients were asked to fill in an ad hoc questionnaire. RESULTS:Seventy-five patients (mean age 41.5 years, 67 males) completed the questionnaire. Patients ha...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000362517
更新日期:2014-01-01 00:00:00
abstract::Botulinum toxin type B (BT-B) therapy failure due to formation of botulinum toxin type B antibodies (BT-B-AB) has only been reported in patients with botulinum toxin type A antibodies (BT-A-AB). We are reporting BT-B-AB-induced therapy failure in 2 patients with no previous exposure to botulinum toxin. In patient 1 co...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000081463
更新日期:2004-01-01 00:00:00
abstract:AIMS:To perform a large and detailed epidemiologic study on restless legs syndrome (RLS) during pregnancy in a European country. METHODS:A cross-sectional questionnaire survey. The questionnaire was distributed by the medical staff in different outpatient waiting rooms (obstetrics and gynecology department of the univ...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000321413
更新日期:2010-01-01 00:00:00
abstract::Prealbumin, was determined in serum, lumbar and ventricular cerebrospinal fluid (CSF) and compared with albumin and IgG. The measured concentrations of prealbumin in the CSF indicate that there are two sources of prealbumin: a minor fraction enters the CSF via the blood-cerebrospinal fluid (B-CSF) barrier like albumin...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000115544
更新日期:1983-01-01 00:00:00
abstract::The aim of this study was to investigate whether there are clues for a correlation between tumor progression and serum anti-Hu antibody concentration in patients with anti-Hu-associated paraneoplastic neurological syndromes (PNS). 19 patients with anti-Hu-associated PNS were assigned to three groups according to the c...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000057897
更新日期:2002-01-01 00:00:00
abstract:BACKGROUND:Tuberculous meningitis is the severest and commonest form of central nervous system tuberculosis causing high mortality and morbidity. We aim to study the clinical, biochemical, and radiological characteristics of tuberculous meningitis in adult patients in Qatar and to calculate the incidence. METHODS:A de...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000368894
更新日期:2015-01-01 00:00:00
abstract:OBJECTIVES:To evaluate the diagnostic yield of nerve biopsy in patients with peripheral neuropathy of undetermined cause despite extensive diagnostic workup. METHODS:From November 2001 through January 2004, 38 patients underwent nerve biopsy because of unclassified neuropathy. RESULTS:The etiology of the neuropathies...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000098057
更新日期:2007-01-01 00:00:00
abstract::Report on a series of patients suffering from cerebrovascular insufficiency caused by stenosis and/or occlusion of one or several major cerebral vessels. The patients were divided in two groups, one being medically treated with anticoagulants, the other operated on either a carotid artery thrombosis by thromboendarter...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000115140
更新日期:1980-01-01 00:00:00
abstract:BACKGROUND:The pathogenesis of card game-induced reflex epilepsy has not been determined so far. The aim of this study was to evaluate structural abnormalities using voxel-based morphometry (VBM) analysis, which may give some clue about the pathogenesis in card game-induced reflex epilepsy. METHODS:The 3 subjects were...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000447537
更新日期:2016-01-01 00:00:00
abstract:BACKGROUND:We aimed to assess the prevalence of headache and migraine, along with comorbidities, in a large -Saudi sample. METHODS:Self-reported information was collected about headache, migraine and migraine comorbidities including depression, restless legs syndrome (RLS), syncope, bruxism, hypertension and ischaemic...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000487317
更新日期:2018-01-01 00:00:00
abstract::The aim of this study was to investigate whether the side and location of single small infarcts (< or = 3 cm) in the corona radiata (28 patients) and pontine base (36 patients) influence the incidence of contralateral upper or lower limb paresis and dysarthria. While the severity of contralateral limb paresis was not ...
journal_title:European neurology
pub_type: 临床试验,杂志文章
doi:10.1159/000117290
更新日期:1996-01-01 00:00:00
abstract::Tardive dyskinesia (TD) induced by antipsychotic drugs represents a great concern for patients and psychiatrists. Considering its pathophysiological mechanisms, there exists a convergence towards the development of postsynaptic dopaminergic hypersensitivity as a possible cause of TD. Hypersensitivity following recepto...
journal_title:European neurology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1159/000116678
更新日期:1991-01-01 00:00:00
abstract::Fatigue is one of the most frequent and most disabling symptoms in multiple sclerosis (MS). We investigated the possible association of the MS-related fatigue syndrome with the available disease-modifying therapies and the main disease characteristics in a cross-sectional study on 320 consecutive patients. The prevale...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000111876
更新日期:2008-01-01 00:00:00
abstract:AIM:To determine whether corpus callosum atrophy predicts future clinical deterioration in multiple sclerosis. METHODS:In 39 multiple sclerosis patients the area of corpus callosum in the sagittal plane, T2 and T1 lesion volumes, brain parenchymal fraction and brain atrophy were determined at baseline and 1 year after...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000337683
更新日期:2012-01-01 00:00:00
abstract::Clinicopathological data of a woman with a 3-year course of concurrent amyotrophic lateral sclerosis and dementia are presented. Dementia had occurred at time of onset of motor disturbances and presented as typical frontal lobe dementia. Pathology confirmed motor neuron disease of amyotrophic lateral sclerosis and fro...
journal_title:European neurology
pub_type: 杂志文章,评审
doi:10.1159/000116962
更新日期:1993-01-01 00:00:00
abstract::During the first 5 days after an intracranial haemorrhage, the red blood cells slowly haemolyse. Most of the oxyhaemoglobin, released in the cerebrospinal fluid, is transformed into bilirubin by an enzyme-dependent process. After 5 days, the haemolysis increases without a corresponding enhancement in the formation of ...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000116339
更新日期:1987-01-01 00:00:00
abstract::We report on management strategies and clinical outcomes in 4 cases of acute symptomatic congestive intracranial hypertension associated with cerebral arteriovenous malformations (AVMs). Congestion resulted from high-volume shunts exhausting the drainage capacity of the cerebral venous system in 3 patients, and from s...
journal_title:European neurology
pub_type: 杂志文章
doi:10.1159/000109263
更新日期:2008-01-01 00:00:00